A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene

Pelizaeus-Merzbacher disease is a tremendously rare genetic disorder caused by a mutation on the X chromosome. The mutation affects a gene critical to white matter myelination and results in significant neurological issues. Here, we present one such case of a child diagnosed with Pelizaeus-Merzbache...

Descripción completa

Detalles Bibliográficos
Autores principales: Usman, Mohammad, Koch, Alexis, Stolzenberg, Laurence, Huang, Austin, Nkie, Veronica E, Ibrahim, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450100/
https://www.ncbi.nlm.nih.gov/pubmed/37637647
http://dx.doi.org/10.7759/cureus.42458

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10450100/
https://www.ncbi.nlm.nih.gov/pubmed/37637647
http://dx.doi.org/10.7759/cureus.42458

Ejemplares similares